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Gene

nphp1

ID
ZDB-GENE-060929-1234
Name
nephronophthisis 1
Symbol
nphp1 Nomenclature History
Previous Names
  • im:7162391
  • wu:fi59g07
  • zgc:152930
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Acts upstream of or within glial cell development; pronephros development; and retina development in camera-type eye. Predicted to be active in cilium and cytoplasm. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nphp1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Joubert syndrome 4 Alliance Joubert syndrome 4 609583
nephronophthisis 1 Alliance Nephronophthisis 1, juvenile 256100
Senior-Loken syndrome Alliance Senior-Loken syndrome-1 266900
Associated With nphp1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001452 SH3 domain
Domain IPR030642 Nephrocystin-1, SH3 domain
Family IPR039687 Nephrocystin-1
Homologous_superfamily IPR036028 SH3-like domain superfamily
Domain Details Per Protein
Protein Length Nephrocystin-1 Nephrocystin-1, SH3 domain SH3 domain SH3-like domain superfamily
UniProtKB:E9QCT9 226
UniProtKB:Q08CL9 667
UniProtKB:F1R8C8 667
UniProtKB:A0A2R8QLL1 669
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations